Neena Champaigne

Dr. Neena Champaigne is a Clinical Associate Professor and Division Chief for Medical Genetics and Genomics in the Department of Pediatrics at the Medical University of South Carolina (MUSC). She is a certified clinical geneticist with dual board certifications in Clinical Genetics and Genomics, and Medical Biochemical Genetics, and also in General Pediatrics. Her clinical practice focuses on diagnosing and managing children and adults with inborn errors of metabolism and newborn screening follow-up in South Carolina.

• Education:
  • B.Sc. in Molecular Genetics, University of Rochester, New York
  • M.D., University of Texas Medical Branch at Galveston
  • Residencies: General Pediatrics (University of Texas Galveston), Clinical Genetics (University of Texas Health Science Center at Houston)

Research Interests encompass biochemical genetics, metabolic disorders, and health equity in genetics services. She has led national initiatives in newborn screening and telegenetics access and co-chaired the NBSTRN Clinical Integration Workgroup. Her work includes studies on ciliopathies, X-chromosome abnormalities, and rare metabolic syndromes.

Recent Publications span topics like CERT1 mutations (2023, JCI), WDR44 variants (2024, Nature Communications), and SIN3A haploinsufficiency (2023, Genetics in Medicine), with subfields including lipid homeostasis, ciliogenesis, and DNA methylation.

• Scientific Awards:
  • 2013 Physician Healthcare Hero (Upstate GSA Business Journal)

Leadership & Grants: She serves on the South Carolina Newborn Screening Advisory Committee and Rare Disease Council, held leadership roles in the Southeastern Regional Genetics Group, and collaborates on NIH-funded research projects. Her lab focuses on translational studies for inherited metabolic disorders, with clinical trials listed in PubMed.